Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2
about
The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapyUsherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cellsThe dynamic architecture of photoreceptor ribbon synapses: cytoskeletal, extracellular matrix, and intramembrane proteinsStructures of usher syndrome 1 proteins and their complexesCLRN1 is nonessential in the mouse retina but is required for cochlear hair cell developmentAssembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteinsHarmonin (Ush1c) is required in zebrafish Müller glial cells for photoreceptor synaptic development and functionInternational Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptorsSticky signaling--adhesion class G protein-coupled receptors take the stageA novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cellsVlgr1 is required for proper stereocilia maturation of cochlear hair cellsWhirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoformsThe E3 ligase Ubr3 regulates Usher syndrome and MYH9 disorder proteins in the auditory organs of Drosophila and mammalsThe proteome of the mouse photoreceptor sensory cilium complexUsher syndrome: Hearing loss, retinal degeneration and associated abnormalities.The divergence, actions, roles, and relatives of sodium-coupled bicarbonate transportersDeafness and retinal degeneration in a novel USH1C knock-in mouse modelFunction and expression pattern of nonsyndromic deafness genesHarmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C.Ush1c gene expression levels in the ear and eye suggest different roles for Ush1c in neurosensory organs in a new Ush1c knockout mousePredicting candidate genes for human deafness disorders: a bioinformatics approachMAGI-1, a candidate stereociliary scaffolding protein, associates with the tip-link component cadherin 23.Biochemical characterization of native Usher protein complexes from a vesicular subfraction of tracheal epithelial cells.Proteomics, bioinformatics and targeted gene expression analysis reveals up-regulation of cochlin and identifies other potential biomarkers in the mouse model for deafness in Usher syndrome type 1F.Neuronal expression of sodium/bicarbonate cotransporter NBCn1 (SLC4A7) and its response to chronic metabolic acidosis.Systematic family-wide analysis of sodium bicarbonate cotransporter NBCn1/SLC4A7 interactions with PDZ scaffold proteinsA composite of multiple signals distinguishes causal variants in regions of positive selection.Constitutive Gαi coupling activity of very large G protein-coupled receptor 1 (VLGR1) and its regulation by PDZD7 protein.A genetic basis for mechanosensory traits in humansAutoantibodies to harmonin and villin are diagnostic markers in children with IPEX syndrome.Current understanding of usher syndrome type II.Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.AAV-Mediated Clarin-1 Expression in the Mouse Retina: Implications for USH3A Gene Therapy.Impact of GPCRs in clinical medicine: monogenic diseases, genetic variants and drug targetsA comparative evaluation of NB30, NB54 and PTC124 in translational read-through efficacy for treatment of an USH1C nonsense mutationRegulated vesicular trafficking of specific PCDH15 and VLGR1 variants in auditory hair cells.The mitotic spindle protein SPAG5/Astrin connects to the Usher protein network postmitotically
P2860
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P2860
Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2
description
2005 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2005
@ast
im Dezember 2005 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2005/12/15)
@sk
vědecký článek publikovaný v roce 2005
@cs
wetenschappelijk artikel (gepubliceerd op 2005/12/15)
@nl
наукова стаття, опублікована в грудні 2005
@uk
مقالة علمية (نشرت في 15-12-2005)
@ar
name
Scaffold protein harmonin (USH ...... her syndrome type 1 and type 2
@ast
Scaffold protein harmonin (USH ...... her syndrome type 1 and type 2
@en
Scaffold protein harmonin (USH ...... her syndrome type 1 and type 2
@nl
type
label
Scaffold protein harmonin (USH ...... her syndrome type 1 and type 2
@ast
Scaffold protein harmonin (USH ...... her syndrome type 1 and type 2
@en
Scaffold protein harmonin (USH ...... her syndrome type 1 and type 2
@nl
prefLabel
Scaffold protein harmonin (USH ...... her syndrome type 1 and type 2
@ast
Scaffold protein harmonin (USH ...... her syndrome type 1 and type 2
@en
Scaffold protein harmonin (USH ...... her syndrome type 1 and type 2
@nl
P2093
P50
P3181
P356
P1476
Scaffold protein harmonin (USH ...... her syndrome type 1 and type 2
@en
P2093
Hannie Kremer
Heleen te Brinke
Jan Reiners
Karin Jürgens
Nora Overlack
Ulrike Zimmermann
P304
P3181
P356
10.1093/HMG/DDI417
P577
2005-12-15T00:00:00Z